ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)

dbSNP: rs765960386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390500 SCV001592240 pathogenic Cobalamin C disease 2020-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595). This variant has not been reported in the literature in individuals with MMACHC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Cys17Serfs*16) in the MMACHC gene. It is expected to result in an absent or disrupted protein product.

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